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Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.
Features include very common findings: Atypical scarring of skin, Fragile skin, Growth delay, and Low red blood cell count (anemia) and others; and common findings: Carious teeth, Milia, Failure to thrive, and Recurrent skin infections and others. 46 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 8 | Difficulty swallowing (dysphagia), Constipation, Gastroesophageal reflux |
Skin | 7 | Atypical scarring of skin, Fragile skin, Abnormal blistering of the skin |
Brain and nerves | 3 | Difficulty swallowing (dysphagia), Depression, Anxiety |
Growth and development | 2 | Growth delay, Failure to thrive |
Blood and immune system | 2 | Low red blood cell count (anemia), Recurrent skin infections |
Muscles | 2 | Skeletal muscle atrophy, Flexion contracture |
Bones and joints | 1 | Skeletal muscle atrophy |
Hormones | 1 | Delayed puberty |
Heart and blood vessels | 1 | Enlarged and weakened heart (dilated cardiomyopathy) |
Arms and legs | 1 | Absent toenail |
Eyes | 1 | Corneal erosion |
Biomarker and diagnostic research for recessive dystrophic epidermolysis bullosa-generalized other has been reported in the published literature.
2 FDA-approved treatments are available for recessive dystrophic epidermolysis bullosa-generalized other, including Prademagene zamikeracel (zevaskyn, approved 2025) and beremagene geperpavec-svdt (VYJUVEK, approved 2023).
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
zevaskyn | Prademagene zamikeracel | — | 2025 | Available |
VYJUVEK | beremagene geperpavec-svdt | — | 2023 | Available |
Gene therapy approaches for recessive dystrophic epidermolysis bullosa-generalized other have been reported in the published literature.
View trials for recessive dystrophic epidermolysis bullosa-generalized other
Phenotype severity distribution: 7 very common features, 21 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for recessive dystrophic epidermolysis bullosa-generalized other.
45 publications have been identified in PubMed for recessive dystrophic epidermolysis bullosa-generalized other. Research spans Clinical Trial Publication (20%), Review / Meta-Analysis (18%), and Case Report / Case Series (16%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 9 | 20% |
Research summaries | 8 | 18% |
Patient case studies | 7 | 16% |
Disease patterns and progression | 7 | 16% |
Laboratory research | 6 | 13% |
New treatment approaches | 6 | 13% |
Testing and diagnosis research | 2 | 4% |
Biggs K (2026). [PMID: 42237200](https://pubmed.ncbi.nlm.nih.gov/42237200/). *Orphanet J Rare Dis*. [Clinical Trial Publication]
Iwamoto T (2026). [PMID: 41982580](https://pubmed.ncbi.nlm.nih.gov/41982580/). *Cureus*. [Case Report / Case Series]
Jeffs E (2026). [PMID: 42087161](https://pubmed.ncbi.nlm.nih.gov/42087161/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Den S (2026). [PMID: 42123236](https://pubmed.ncbi.nlm.nih.gov/42123236/). *J Clin Med*. [Case Report / Case Series]
von Gunten M (2026). [PMID: 41966929](https://pubmed.ncbi.nlm.nih.gov/41966929/). *J Hand Ther*. [Case Report / Case Series]
Feinstein JA (2026). [PMID: 41735025](https://pubmed.ncbi.nlm.nih.gov/41735025/). *Pediatric dermatology*. [Review / Meta-Analysis]
Gretzmeier C (2026). [PMID: 42147441](https://pubmed.ncbi.nlm.nih.gov/42147441/). *Mol Ther Adv*. [Gene Therapy / Novel Therapeutics]
Dette CMU (2025). [PMID: 41404110](https://pubmed.ncbi.nlm.nih.gov/41404110/). *Computational and structural biotechnology journal*. [Review / Meta-Analysis]
Osborn MJ (2025). [PMID: 40077969](https://pubmed.ncbi.nlm.nih.gov/40077969/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Review / Meta-Analysis]
Mellerio JE (2025). [PMID: 39874247](https://pubmed.ncbi.nlm.nih.gov/39874247/). *Clinical and experimental dermatology*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning recessive dystrophic epidermolysis bullosa-generalized other
Updated Jun 2, 2026
Research highlights the antifibrotic effects of N-acetylcysteine in fibroblasts from chronic wounds associated with recessive dystrophic epidermolysis bullosa. This study may inform future therapeutic strategies for managing fibrosis in this rare skin condition.
The Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) reveals significant insights into health-related quality of life for patients with recessive dystrophic epidermolysis bullosa. This study contributes valuable data to understanding the patient experience in this rare skin condition.
A case report highlights the challenges of managing recessive dystrophic epidermolysis bullosa in a resource-limited setting at Mohamed Adam Sheikh Children's Teaching Hospital in Hargeisa, Somaliland. This study underscores the need for improved healthcare resources for rare diseases in underserved regions.
INmune Bio will present new clinical data on CORDStrom™ for recessive dystrophic epidermolysis bullosa (RDEB) in an upcoming webinar. The MissionEB Phase III trial highlights CORDStrom™ as a systemic, disease-modifying therapy, contrasting with current treatments that focus solely on topical wound care.